CDKL5 Variant



Variant ID: cm9

Systematic name: c.2372A>C

Protein name: p.Gln791Pro

Alternate name(s): p.Q791P

Mutation type: missense

Domain: regulatory C-terminal

Pathogenicity class: benign variant

dbSNP ID: rs35478150

First reference: Tao, J., Van Esch, H., Hage-dorn-Greiwe, M., Hoffmann, K., Moser, B., Raynaud, M., Sperner, J., Fryns, J.-P., Schwinger, E., Gecz, J., Ropers, H.-H., Kalcheuer, V.M. (2004) Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet 75:1149-1154. Pubmed ID: 15499549

Comments: common polymorphism

Variant last updated on: 2014-03-13 05:38:10

Matching entries in the proband database

cDNA name Protein name Phenotype Gender Reference Proband ID
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549, Tao et al (2004) cp11
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549, Tao et al (2004) cp12
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549, Tao et al (2004) cp13
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549, Tao et al (2004) cp14
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 15499549, Tao et al (2004) cp15
c.2372A>C p.Gln791Pro Unaffected - normal control Unknown 15499549, Tao et al (2004) cp16
c.2372A>C p.Gln791Pro Unaffected - normal control Unknown 15499549, Tao et al (2004) cp17
c.2372A>C p.Gln791Pro Unaffected - normal control Unknown 15499549, Tao et al (2004) cp18
c.2372A>C p.Gln791Pro Not Rett syndrome - severe encephalopathy and early-onset seizures Male 19564592, Fichou et al (2009) cp105
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp113
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp114
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp115
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp116
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp117
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp118
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp119
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp120
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp121
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp122
c.2372A>C p.Gln791Pro Not known Unknown 19241098, Russo et al (2009) cp123
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747, White et al (2010) cp147
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747, White et al (2010) cp148
c.2372A>C p.Gln791Pro Not Rett syndrome - West syndrome Male 20397747, White et al (2010) cp149
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp150
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp151
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp152
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp153
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp154
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp155
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp156
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp157
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp158
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp159
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp160
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp161
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp162
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp163
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 20397747, White et al (2010) cp164
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 20397747, White et al (2010) cp165
c.2372A>C p.Gln791Pro Unaffected - unaffected family member Male 20397747, White et al (2010) cp166
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp235
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp236
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp237
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp238
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp239
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp240
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp241
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp242
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp243
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp244
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp245
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp246
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp247
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp248
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp249
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp250
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp251
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp252
c.2372A>C p.Gln791Pro Not Rett syndrome - autism spectrum disorder or schizophrenia Unknown 20479760, Piton et al (2011) cp253
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp271
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp272
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp273
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp274
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp275
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp276
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp277
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female 21160487, Hadzsiev et al (2011) cp278
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp390
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp391
c.2372A>C p.Gln791Pro Rett syndrome - not certain Female Roche Martinez et al (2012) cp392
c.2372A>C p.Gln791Pro Unaffected - unaffected family member Female Roche Martinez et al (2012) cp393
c.2372A>C p.Gln791Pro Unaffected - unaffected family member Female Roche Martinez et al (2012) cp394
c.2372A>C p.Gln791Pro Unaffected - unaffected family member Female Roche Martinez et al (2012) cp395
c.2372A>C p.Gln791Pro Rett syndrome - atypical Female 23242510, Das et al (2013) cp440
c.2372A>C p.Gln791Pro Not Rett syndrome - early onset refractory epileptic encephalopathy Male Directly submitted cp476
c.2372A>C p.Gln791Pro Not Rett syndrome - severe mental retardation and autism Female Directly submitted cp477
c.2372A>C p.Gln791Pro Not Rett syndrome - developmental delay and infantile spasms Male Directly submitted cp480
c.2372A>C p.Gln791Pro Not Rett syndrome - developmental delay and infantile spasms Female Directly submitted cp488
c.[2372A>C];[2372A>C] p.[Gln791Pro];[Gln791Pro] Rett syndrome - early-onset seizures Female Directly submitted cp494
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 27187038, et al () cp507
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Female 27187038, et al () cp508
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Male 27187038, et al () cp509
c.2372A>C p.Gln791Pro Not Rett syndrome - epileptic encephalopathy Male 27187038, et al () cp510

Displaying a total number of 83 proband entries matching this variant.